Test ID: FRAPS
Familial Hibernian Fever; TNF-Receptor-Associated Periodic Syndrome (TRAPS)
NY State Approved 
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Method Name A short description of the method used to perform the test
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Familial Hibernian fever/TRAPS (TNGRSF1A) Exons 2-5 only FORWARD
TNF Receptor Associated Periodic Syndrome FORWARD
TRAPS FORWARD
TNFRSF1A FORWARD
TNFRSF1A Select Exons Sequencing FORWARD
TRAPS Tumor necrosis factor FORWARD
Autosomal Dominant Familial Periodic Fever FORWARD
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Submit only 1 of the following:
Note: Complete and submit with specimen
1. GeneDx request form
Blood
Draw blood in a lavender-top (EDTA) tube. Send 5 mL EDTA whole blood refrigerate.
DNA
High grade DNA preparation is requested. Minimum total amount of DNA 5 micrograms, with a concentration of at least 50 ng/ul (50 nanograms per microliter). Provide concentration and volume on request form, ship refrigerate.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis: | NA |
| Thawing: | Warm reject; Cold reject |
| Lipemia: | NA |
| Icterus: | NA |
| Other: | DNA acceptable frozen |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Refrigerated | 7 days |
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Test Performed by: GeneDx, Inc.
207 Perry Parkway
Gaithersburg, MD 20877
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Genetic testing using the methods applied at GeneDx is expected to be highly accurate. However, the chance of a false positive or false negative result, due to laboratory errors incurred during any phase of testing, cannot be completely excluded.
Method Description Describes how the test is performed and provides a method-specific reference
Genomic DNA from this specimen was PCR-amplified for analysis of exons 2-5, their flanking splice sites, as well as introns 2 and 4 of the TNFRSF1A gene. Bi-directional sequence was obtained and DNA sequence was analyzed and compared to the published gene sequence. The methods used by GeneDx are expected to be greater than 99% sensitive in detecting mutations identifiable by sequencing.
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Varies
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
81479
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| Z3174 | Result: | In Process |
| Z3175 | Interpretation: | In Process |
| Z3176 | Recommendation: | In Process |
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